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Last updated on Sep 9, 2025

Causes of Retinitis Pigmentosa: Genetics, Autoimmune Factors, and Triggers

Retinitis Pigmentosa is often labeled as genetic, but Dr. Andy Rosenfarb explains why autoimmune and environmental triggers may play a bigger role in disease progression.

Causes of Retinitis Pigmentosa

Retinitis Pigmentosa (RP) is traditionally described as a genetic eye disease that causes progressive vision loss. But as Dr. Andy Rosenfarb explains, this view is incomplete.

“In my experience, RP is not just about genetics. The immune system plays a huge role. In many cases, it’s autoimmune — the body is attacking its own retinal tissue.”

Understanding the true causes of RP can open new doors for treatment and prevention.


Genetics and Retinitis Pigmentosa

  • RP has been linked to mutations in more than 60 genes.
  • These genes often affect how photoreceptor cells (rods and cones) function.
  • Inherited forms can follow autosomal dominant, autosomal recessive, or X-linked patterns.

But genetics alone doesn’t explain everything. Many patients with RP have no strong family history, and symptoms vary widely even among siblings.


The Autoimmune Factor

Dr. Rosenfarb emphasizes that autoimmunity is a key driver for many RP patients:

  • The immune system mistakenly targets retinal cells.
  • Chronic inflammation accelerates degeneration.
  • Lab testing sometimes shows autoimmune markers in RP patients.

This autoimmune theory helps explain why progression can vary and why holistic treatments that calm the immune system often make a difference.


Epigenetics and Environmental Triggers

Epigenetics refers to how lifestyle and environment influence gene expression.
For RP, triggers may include:

  • Viral or bacterial infections
  • Chronic stress
  • Poor diet or gut health imbalances
  • Environmental toxins

These don’t change the DNA itself, but they can activate or suppress disease pathways, helping explain why RP looks so different from one person to another.


The Role of Stress and Inflammation

Dr. Rosenfarb often points out that stress is behind most chronic disease, including RP:

  • Stress raises cortisol and blood pressure.
  • It weakens immune regulation.
  • It creates oxidative damage in the retina.

Reducing stress and inflammation is one of the most powerful ways to slow RP progression.


Conventional Medicine’s View

Traditionally, patients are told RP is incurable and purely genetic. Genetic counseling and low-vision aids are the standard recommendations.

But this leaves out the autoimmune and epigenetic perspective, which may offer more hope for slowing or even partially reversing progression.


Holistic & Functional Perspective

At the Eye Health Institute, treatment focuses on addressing root causes:

  • Acupuncture to improve circulation and reduce inflammation.
  • Functional medicine to repair gut health and immune balance.
  • Nutritional and herbal support to protect retinal cells.

This approach targets not just the symptoms, but the underlying drivers of degeneration.


Next Steps

If you or a loved one has RP: